Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.R827Q
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ATP7B

NM_000053.4:p.R827Q

Associated Papers

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.

Steiner Mrázová L et al.

Human Mutation, 2026

Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases.

You JY et al.

World Journal of Clinical Pediatrics, 2024

Clinical and Genetic Analysis in Neurological Wilson's Disease Patients With Neurological Worsening Following Chelator Therapy.

Hou H et al.

Frontiers in Genetics, 2022

A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report.

Zhang Z et al.

Journal of Musculoskeletal & Neuronal Interactions, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."